IFT122 (intraflagellar transport 122)

Gene

• Entrez ID: 55764
• Gene name: Intraflagellar transport 122
• Gene symbol: IFT122
• Synonyms (NCBI Gene): CED, CED1, CFAP80, FAP80, SPG, WDR10, WDR10p, WDR140
• Chromosome: 3
• Chromosome location: 3q21.3-q22.1
• Summary: This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein com

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs76881473	C>T	Benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs79187669	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Synonymous variant, coding sequence variant, 5 prime UTR variant
rs138329739	C>T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, stop gained, intron variant, coding sequence variant
rs146818399	T>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic downstream transcript variant
rs191420441	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs267607191	T>G	Pathogenic	Coding sequence variant, missense variant
rs267607192	C>T	Pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant
rs373836204	T>C,G	Pathogenic	Synonymous variant, stop gained, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs376595844	G>A,C,T	Pathogenic	Genic upstream transcript variant, intron variant
rs397515567	G>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs397515568	G>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs755005244	G>C	Pathogenic	Splice acceptor variant
rs757823317	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs776099605	A>C,G,T	Likely-pathogenic	Genic downstream transcript variant, downstream transcript variant, coding sequence variant, missense variant
rs781409395	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, 5 prime UTR variant
rs786205566	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs786205567	T>C	Pathogenic, likely-pathogenic	Splice donor variant
rs886041421	TA>-	Pathogenic	Frameshift variant, coding sequence variant
rs886042132	A>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1185183557	C>T	Likely-pathogenic	Intron variant, stop gained, coding sequence variant
rs1559869525	G>A	Likely-pathogenic	Genic upstream transcript variant, splice donor variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018545	hsa-miR-335-5p	Microarray	18185580
MIRT2682638	hsa-miR-2355-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001843	Process	Neural tube closure	ISS
GO:0005515	Function	Protein binding	IPI	22190034, 27173435, 27932497, 28514442, 29220510, 30476139, 33961781
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IDA	29220510
GO:0005929	Component	Cilium	IEA
GO:0005929	Component	Cilium	ISS
GO:0005929	Component	Cilium	NAS	27806291
GO:0005929	Component	Cilium	TAS
GO:0010172	Process	Embryonic body morphogenesis	ISS
GO:0016020	Component	Membrane	HDA	19946888
GO:0021513	Process	Spinal cord dorsal/ventral patterning	ISS
GO:0030030	Process	Cell projection organization	IEA
GO:0030991	Component	Intraciliary transport particle A	IBA
GO:0030991	Component	Intraciliary transport particle A	IDA	20889716, 27932497, 29220510, 30476139
GO:0030991	Component	Intraciliary transport particle A	IEA
GO:0030991	Component	Intraciliary transport particle A	IPI	27173435
GO:0031965	Component	Nuclear membrane	IDA
GO:0032391	Component	Photoreceptor connecting cilium	ISS
GO:0035050	Process	Embryonic heart tube development	ISS
GO:0035115	Process	Embryonic forelimb morphogenesis	ISS
GO:0035556	Process	Intracellular signal transduction	ISS
GO:0035720	Process	Intraciliary anterograde transport	ISS
GO:0035721	Process	Intraciliary retrograde transport	IBA
GO:0035721	Process	Intraciliary retrograde transport	ISS
GO:0035721	Process	Intraciliary retrograde transport	NAS	27806291
GO:0036064	Component	Ciliary basal body	IDA	29220510
GO:0036064	Component	Ciliary basal body	IEA
GO:0042073	Process	Intraciliary transport	IEA
GO:0042073	Process	Intraciliary transport	IMP	29220510
GO:0042995	Component	Cell projection	IEA
GO:0045879	Process	Negative regulation of smoothened signaling pathway	ISS
GO:0048593	Process	Camera-type eye morphogenesis	ISS
GO:0060173	Process	Limb development	ISS
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	IMP	29220510
GO:0060271	Process	Cilium assembly	ISS
GO:0060271	Process	Cilium assembly	NAS	27806291
GO:0060971	Process	Embryonic heart tube left/right pattern formation	ISS
GO:0061512	Process	Protein localization to cilium	IBA
GO:0061512	Process	Protein localization to cilium	IEA
GO:0061512	Process	Protein localization to cilium	IMP	20889716
GO:0061512	Process	Protein localization to cilium	IMP	29220510
GO:0072594	Process	Establishment of protein localization to organelle	ISS
GO:0097542	Component	Ciliary tip	TAS
GO:0097730	Component	Non-motile cilium	IBA
GO:1905515	Process	Non-motile cilium assembly	IBA

Other IDs

• MIM: 606045
• HGNC: 13556
• e!Ensembl: ENSG00000163913

Protein

• UniProt ID: Q9HBG6
• Protein name: Intraflagellar transport protein 122 homolog (WD repeat-containing protein 10) (WD repeat-containing protein 140)
• Protein function: As a component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs), it is required in ciliogenesis and ciliary protein trafficking (PubMed:27932497, PubMed
• PDB: 8BBE, 8BBF, 8BBG, 8FGW, 8FH3
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00400	WD40	43 → 81	WD domain, G-beta repeat	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Expressed in many tissues. Predominant expression in testis and pituitary. {ECO:0000269|PubMed:11242542}.
• Sequence:

  MRAVLTWRDKAEHCINDIAFKPDGTQLILAAGSRLLVYDTSDGTLLQPLKGHKDTVYCVA
  YAKDGKRFASGSADKSVIIWTSKLEGILKYTHNDAIQCVSYNPITHQLASCSSSDFGLWS
  PEQKSVSKHKSSSKIICCSWTNDGQYLALGMFNGIISIRNKNGEEKVKIERPGGSLSPIW
  SICWNPSSRWESFWMNRENEDAEDVIVNRYIQEIPSTLKSAVYSSQGSEAEEEEPEEEDD
  SPRDDNLEERNDILAVADWGQKVSFYQLSGKQIGKDRALNFDPCCISYFTKGEYILLGGS
  DKQVSLFTKDGVRLGTVGEQNSWVWTCQAKPDSNYVVVGCQDGTISFYQLIFSTVHGLYK
  DRYAYRDSMTDVIVQHLITEQKVRIKCKELVKKIAIYRNRLAIQLPEKILIYELYSEDLS
  DMHYRVKEKIIKKFECNLLVVCANHIILCQEKRLQCLSFSGVKEREWQMESLIRYIKVIG
  GPPGREGLLVGLKNGQILKIFVDNLFAIVLLKQATAVRCLDMSASRKKLAVVDENDTCLV
  YDIDTKELLFQEPNANSVAWNTQCEDMLCFSGGGYLNIKASTFPVHRQKLQGFVVGYNGS
  KIFCLHVFSISAVEVPQSAPMYQYLDRKLFKEAYQIACLGVTDTDWRELAMEALEGLDFE
  TAKKAFIRVQDLRYLELISSIEERKKRGETNNDLFLADVFSYQGKFHEAAKLYKRSGHEN
  LALEMYTDLCMFEYAKDFLGSGDPKETKMLITKQADWARNIKEPKAAVEMYISAGEHVKA
  IEICGDHGWVDMLIDIARKLDKAEREPLLLCATYLKKLDSPGYAAETYLKMGDLKSLVQL
  HVETQRWDEAFALGEKHPEFKDDIYMPYAQWLAENDRFEEAQKAFHKAGRQREAVQVLEQ
  LTNNAVAESRFNDAAYYYWMLSMQCLDIAQDPAQKDTMLGKFYHFQRLAELYHGYHAIHR
  HTEDPFSVHRPETLFNISRFLLHSLPKDTPSGISKVKILFTLAKQSKALGAYRLARHAYD
  KLRGLYIPARFQKSIELGTLTIRAKPFHDSEELVPLCYRCSTNNPLLNNLGNVCINCRQP
  FIFSASSYDVLHLVEFYLEEGITDEEAISLIDLEVLRPKRDDRQLEIANNSSQILRLVET
  KDSIGDEDPFTAKLSFEQGGSEFVPVVVSRLVLRSMSRRDVLIKRWPPPLRWQYFRSLLP
  DASITMCPSCFQMFHSEDYELLVLQHGCCPYCRRCKDDPGP

• Sequence length: 1241

Pathways

Reactome:

Hedgehog 'off' state
Intraflagellar transport

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Cranioectodermal dysplasia	Pathogenic	rs786205567	RCV000256473	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cranioectodermal dysplasia 1	Likely pathogenic; Pathogenic	rs372483083, rs2081339145, rs1559868433, rs1299632365, rs2108740086, rs1039467525, rs2108311256, rs2108101855, rs2108328020, rs369346055, rs786205566, rs786205567, rs2532710574, rs770590297, rs267607191, rs267607192, rs267607193, rs746129224, rs2531429983, rs2076139894, rs764222986, rs763755540, rs2531375175, rs905675504, rs2532967754, rs1300189424, rs2532525678, rs951629848, rs2531458645, rs2532968237, rs1377926916, rs1559941008, rs2077995074, rs2531744619, rs776099605, rs1559869525, rs138329739, rs755005244, rs1185183557, rs397515567, rs2077955754, rs372355939, rs2074912574, rs2083230922	RCV001535931 RCV001536093 RCV001783466 RCV001783467 RCV001797987 RCV001867450 RCV001972294 RCV002023959 RCV002249079 RCV003075682 RCV003989481 RCV004527368 RCV002664317 RCV002574933 RCV000004898 RCV000004899 RCV000004901 RCV002635923 RCV002819414 RCV002856848 RCV002850900 RCV002890405 RCV002881756 RCV002944096 RCV003010300 RCV003030742 RCV003502761 RCV003503122 RCV003503971 RCV003612484 RCV003612768 RCV003611270 RCV003612354 RCV003612424 RCV005230338 RCV000705197 RCV000705716 RCV002477685 RCV002500985 RCV000055971 RCV001281142 RCV001281141 RCV001261959 RCV001263242	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
IFT122-related disorder	Likely pathogenic; Pathogenic	rs1559868433, rs1240946692, rs138329739	RCV003416445 RCV003391305 RCV003392543	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rod-cone dystrophy	Likely pathogenic	rs2084588345	RCV001376272	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANTI-TOPOISOMERASE-I-ANTIBODY-POSITIVE SYSTEMIC SCLERODERMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY MOTILITY DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONNECTIVE TISSUE DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Connective tissue disorder	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EDEMA, CARDIAC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EYE ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDROCEPHALUS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHORT RIB-POLYDACTYLY SYNDROME, BEEMER-LANGER TYPE	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acrocephaly	Acrocephaly	CTD_human_DG	20493458		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	27543835		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	27543835		★☆☆☆☆ Found in Text Mining only
Aqueductal Stenosis	Aqueductal Stenosis	CTD_human_DG	20493458		★☆☆☆☆ Found in Text Mining only
Bicuspid aortic valve	Bicuspid aortic valve	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	CTD_human_DG	20493458		★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Camurati-Engelmann Syndrome	Diaphyseal dysplasia	BEFREE	10631145, 29220510		★☆☆☆☆ Found in Text Mining only
Camurati-Engelmann Syndrome	Diaphyseal dysplasia	GENOMICS_ENGLAND_DG	20493458		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	31718200		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic mountain sickness	Mountain sickness	BEFREE	29029226		★☆☆☆☆ Found in Text Mining only
Ciliary Motility Disorders	Ciliary dyskinesia	CTD_human_DG	20493458		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliopathies	Ciliopathies	BEFREE	20493458, 28332779, 28370949, 29134781, 29220510		★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Communicating Hydrocephalus	Communicating Hydrocephalus	CTD_human_DG	20493458		★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Hydrocephalus	Congenital Hydrocephalus	CTD_human_DG	20493458		★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cranioectodermal Dysplasia	Craniodiaphyseal dysplasia	Pubtator	20493458, 32007091	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cranioectodermal dysplasia	Cranioectodermal Dysplasia	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cranioectodermal dysplasia	Cranioectodermal Dysplasia	BEFREE	26792575, 28332779, 29134781		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cranioectodermal dysplasia	Cranioectodermal Dysplasia	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CRANIOECTODERMAL DYSPLASIA 1	Cranioectodermal Dysplasia	GENOMICS_ENGLAND_DG	19000668, 20493458, 23826986		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CRANIOECTODERMAL DYSPLASIA 1	Cranioectodermal Dysplasia	CLINVAR_DG	20493458, 23826986, 26792575		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CRANIOECTODERMAL DYSPLASIA 1	Cranioectodermal Dysplasia	UNIPROT_DG	20493458, 23826986, 24689072, 26792575, 29220510		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CRANIOECTODERMAL DYSPLASIA 1	Cranioectodermal Dysplasia	ORPHANET_DG	21438135, 22791528		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CRANIOECTODERMAL DYSPLASIA 1	Cranioectodermal Dysplasia	BEFREE	26792575, 28332779, 29134781		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CRANIOECTODERMAL DYSPLASIA 1	Cranioectodermal Dysplasia	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Craniosynostosis	Craniosynostosis	CTD_human_DG	20493458		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis	Craniosynostosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis, Type 1	Craniosynostosis	CTD_human_DG	20493458		★☆☆☆☆ Found in Text Mining only
Cystic kidney	Cystic Kidney Disease	BEFREE	27681595		★☆☆☆☆ Found in Text Mining only
Dental Enamel Hypoplasia	Dental Enamel Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental absence of tooth	Anodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fetal Cerebral Ventriculomegaly	Fetal Cerebral Ventriculomegaly	CTD_human_DG	20493458		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gangrene	Gangrene	BEFREE	30625509		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal Diseases	BEFREE	29391140		★☆☆☆☆ Found in Text Mining only
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	27084228, 31824395		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	CTD_human_DG	20493458		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hydrocephalus Ex-Vacuo	Hydrocephalus Ex-Vacuo	CTD_human_DG	20493458		★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypomagnesemia 2, renal	Hypomagnesemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	BEFREE	28327087		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	31718200		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	CTD_human_DG	20493458		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver cyst	Liver Cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Metopic synostosis	Metopic synostosis	CTD_human_DG	20493458		★☆☆☆☆ Found in Text Mining only
Microdontia (disorder)	Microdontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	27783195		★☆☆☆☆ Found in Text Mining only
Nephritis, Tubulointerstitial	Nephritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	25454648		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obstructive Hydrocephalus	Obstructive Hydrocephalus	CTD_human_DG	20493458		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pelizaeus-Merzbacher Disease	Pelizaeus-Merzbacher disease	BEFREE	11093273		★☆☆☆☆ Found in Text Mining only
Primary Ciliary Dyskinesia	Ciliary dyskinesia	CTD_human_DG	20493458		★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rhizomelia	Rhizomelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sagittal craniosynostosis	Sagittal craniosynostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scaphycephaly	Scaphocephaly	CTD_human_DG	20493458		★☆☆☆☆ Found in Text Mining only
Scaphycephaly	Scaphocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	BEFREE	31005740		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	29391140		★☆☆☆☆ Found in Text Mining only
Short rib-polydactyly syndrome, Beemer type	Short Rib-Polydactyly Syndrome	BEFREE	28370949		★☆☆☆☆ Found in Text Mining only
Short rib-polydactyly syndrome, Beemer type	Short Rib-Polydactyly Syndrome	ORPHANET_DG	28370949		★☆☆☆☆ Found in Text Mining only
Short rib-polydactyly syndrome, Beemer-Langer type	Short Rib-Polydactyly Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia	Spastic Paraplegia	BEFREE	28327087, 8782167		★☆☆☆☆ Found in Text Mining only
Spastic paraplegia 4, autosomal dominant	Spastic Paraplegia	BEFREE	20857310		★☆☆☆☆ Found in Text Mining only
SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE	Spastic Paraplegia	BEFREE	28327087		★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia, Hereditary	Spastic paraplegia	BEFREE	21107874, 22491195, 25454648		★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly, type 2	Syndactyly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Synostotic Anterior Plagiocephaly	Synostotic Anterior Plagiocephaly	CTD_human_DG	20493458		★☆☆☆☆ Found in Text Mining only
Synostotic Posterior Plagiocephaly	Synostotic Posterior Plagiocephaly	CTD_human_DG	20493458		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	31005740		★☆☆☆☆ Found in Text Mining only
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	28327087		★☆☆☆☆ Found in Text Mining only
Taurodontism	Taurodontism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Trigonocephaly	Trigonocephaly	CTD_human_DG	20493458		★☆☆☆☆ Found in Text Mining only